Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. (Q24317292)

4 July 2017

0 references

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. (English)

1 reference

LDL receptor related protein 5

4 July 2017

1 reference

Frizzled class receptor 4

GOA release 2020-03-11

1 reference

retina vasculature morphogenesis in camera-type eye

GOA release 2020-03-11

1 reference

exudative vitreoretinopathy

GOA release 2020-03-11

1 reference

15

1 reference

4 July 2017

18

Chris F Inglehearn

0 references

Carmel Toomes

1

Carmel Toomes

0 references

Richard C Trembath

Richard Trembath

10

0 references

David A. Mackey

David A Mackey

6

0 references

Jamie E Craig

7

Jamie E Craig

1 reference

4 July 2017

Helen M Bottomley

2

1 reference

4 July 2017

Richard M Jackson

3

1 reference

4 July 2017

Katherine V Towns

4

1 reference

4 July 2017

Sheila Scott

5

1 reference

4 July 2017

Li Jiang

8

1 reference

4 July 2017

Zhenglin Yang

9

1 reference

4 July 2017

Geoffrey Woodruff

11

1 reference

4 July 2017

Cheryl Y Gregory-Evans

12

1 reference

4 July 2017

Kevin Gregory-Evans

13

1 reference

4 July 2017

Michael J Parker

14

1 reference

4 July 2017

Louise M Downey

16

1 reference

4 July 2017

Kang Zhang

17

1 reference

4 July 2017

language of work or name

English

0 references

publication date

11 March 2004

1 reference

American Journal of Human Genetics

4 July 2017

1 reference

4 July 2017

74

1 reference

4 July 2017

4

1 reference

4 July 2017

721-730

1 reference

Functional characterization of WNT7A signaling in PC12 cells: interaction with A FZD5 x LRP6 receptor complex and modulation by Dickkopf proteins

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Multiple sequence alignment with the Clustal series of programs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

SWISS-MODEL: An automated protein homology-modeling server

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Head inducer Dickkopf-1 is a ligand for Wnt coreceptor LRP6

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Novel mechanism of Wnt signalling inhibition mediated by Dickkopf-1 interaction with LRP6/Arrow

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Kremen2 modulates Dickkopf2 activity during Wnt/LRP6 signaling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Structure of the LDL receptor extracellular domain at endosomal pH

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

High bone density due to a mutation in LDL-receptor-related protein 5

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Mutual antagonism between dickkopf1 and dickkopf2 regulates Wnt/beta-catenin signalling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

An LDL-receptor-related protein mediates Wnt signalling in mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Cloning of a novel member of the low-density lipoprotein receptor family

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Isolation and characterization of LRP6, a novel member of the low density lipoprotein receptor gene family

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Protein folding and association: insights from the interfacial and thermodynamic properties of hydrocarbons

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

arrow encodes an LDL-receptor-related protein essential for Wingless signalling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Wise, a context-dependent activator and inhibitor of Wnt signalling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Familial exudative vitreoretinopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Disulfide bridges of a cysteine-rich repeat of the LDL receptor ligand-binding domain

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Autosomal dominant exudative vitreoretinopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Detecting polymorphisms and mutations in candidate genes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

A new low density lipoprotein receptor related protein, LRP5, is expressed in hepatocytes and adrenal cortex, and recognizes apolipoprotein E.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

The Gene for Autosomal Dominant Familial Exudative Vitreoretinopathy (Criswick-Schepens) on the Long Arm of Chromosome 11

29 November 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181948

29 November 2018

https://api.crossref.org/works/10.1086%2F383202

7 January 2021

inferred from DOI database lookup

Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy

1 reference

12 December 2020

Familial exudative vitreoretinopathy. An expanded view

1 reference

12 December 2020

Familial exudative vitreoretinopathy

1 reference

12 December 2020

X-Linked Recessive Familial Exudative Vitreoretinopathy

1 reference

12 December 2020

Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families

1 reference

12 December 2020

Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity

1 reference

12 December 2020

Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity

1 reference

12 December 2020

Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy

1 reference

12 December 2020

Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F383202

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/383202

1 reference

OpenCitations bibliographic resource ID

4 July 2017

686123

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference